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Infantile nystagmus

Gene: MT-CO1

Red List (low evidence)
MT-CO1 (mitochondrially encoded cytochrome c oxidase I)
EnsemblGeneIds (GRCh38): ENSG00000198804
EnsemblGeneIds (GRCh37): ENSG00000198804
OMIM: 516030, Gene2Phenotype
MT-CO1 is in 9 panels

1 review

Ellen McDonagh (Genomics England Curator)

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Nystagmus; Optic neuropathy

Publications

Created: 7 Sep 2016, 12:18 p.m.

Panel version: 0.8

History Filter Activity

18 Oct 2023, Gel status: 1

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1.

12 Sep 2023, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.

21 Dec 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

21/Dec/2016: panel revised according to expert review, addition of green genes from the Ocular and oculo-cutaneous albinism (Version 1.1) gene panel and further curation.

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

7 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MT-CO1 was added to Infantile nystagmuspanel. Sources: Literature

7 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MT-CO1 was created by ellenmcdonagh